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There are 38476 results for: content related to: Novel mutations of the PRKAR1A gene in patients with acrodysostosis

  1. Genome-wide analysis of Italian sheep diversity reveals a strong geographic pattern and cryptic relationships between breeds

    Animal Genetics

    Volume 45, Issue 2, April 2014, Pages: 256–266, E. Ciani, P. Crepaldi, L. Nicoloso, E. Lasagna, F. M. Sarti, B. Moioli, F. Napolitano, A. Carta, G. Usai, M. D'Andrea, D. Marletta, R. Ciampolini, V. Riggio, M. Occidente, D. Matassino, D. Kompan, P. Modesto, N. Macciotta, P. Ajmone-Marsan and F. Pilla

    Article first published online : 5 DEC 2013, DOI: 10.1111/age.12106

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    Magmatic processes and segmentation at a fast spreading mid-ocean ridge: Detailed investigation of an axial discontinuity on the East Pacific Rise crest at 9°37′N

    Geochemistry, Geophysics, Geosystems

    Volume 2, Issue 10, October 2001, Matthew C. Smith, Michael R. Perfit, Daniel J. Fornari, W. Ian Ridley, Margo H. Edwards, Gregory J. Kurras and Karen L. Von Damm

    Article first published online : 16 OCT 2001, DOI: 10.1029/2000GC000134

  3. You have full text access to this OnlineOpen article
    Age-related macular degeneration—clinical review and genetics update

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 160–166, R Ratnapriya and E Y Chew

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12206

  4. SOX10 mutations mimic isolated hearing loss

    Clinical Genetics

    V. Pingault, E. Faubert, V. Baral, S. Gherbi, N. Loundon, V. Couloigner, F. Denoyelle, N. Noël-Pétroff, H. Ducou Le Pointe, M. Elmaleh-Bergès, N. Bondurand and S. Marlin

    Article first published online : 6 NOV 2014, DOI: 10.1111/cge.12506

  5. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype

    Clinical Genetics

    S. Costantini, G. Malerba, G. Contreas, M. Corradi, S.P. Marin Vargas, A. Giorgetti and C. Maffeis

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12406

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    Plutonic foundation of a slow-spreading ridge segment: Oceanic core complex at Kane Megamullion, 23°30′N, 45°20′W

    Geochemistry, Geophysics, Geosystems

    Volume 9, Issue 5, May 2008, Henry J. B. Dick, Maurice A. Tivey and Brian E. Tucholke

    Article first published online : 15 MAY 2008, DOI: 10.1029/2007GC001645

  7. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 477–481, J Gao, J Xue, Li Chen, X Ke, Y Qi and Y Liu

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12006

  8. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 232–237, SA Narod, JRK Moody, B Rosen, I Fan, A Risch, P Sun and JR McLaughlin

    Article first published online : 3 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01906.x

  9. Fueling Capitalism: Oil, the Regulation Approach, and the Ecology of Capital

    Economic Geography

    Volume 89, Issue 2, April 2013, Pages: 171–194, Matt Huber

    Article first published online : 31 JAN 2013, DOI: 10.1111/ecge.12006

  10. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

    Clinical Genetics

    M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12517

  11. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  12. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

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    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  14. Cornelia de Lange syndrome

    Clinical Genetics

    M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  15. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  16. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  17. Novel treatment strategies for schizophrenia from improved understanding of genetic risk

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 401–411, B.J. Morris and J.A. Pratt

    Article first published online : 16 SEP 2014, DOI: 10.1111/cge.12485

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  19. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

  20. Genetics of sudden cardiac death in the young

    Clinical Genetics

    J.B. Saenen, E.M. Van Craenenbroeck, D. Proost, F. Marchau, L. Van Laer, C.J. Vrints and B.L. Loeys

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12519